Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.D28Splc

ATF6

368 papers

RefSeq Summary

This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this prote...

Pfam Domains

bZIP_1aa 305–367UCSCbZIP transcription factor

Gene Aliases

HGNC Name

activating transcription factor 6

HGNC Alias Symbols

ATF6A; ATP6alpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007348.4
p.D28Splc
c.82+1G>T
Surrounding Variants
1 paper
NM_007348.4
p.W27_D28insFs
c.81_82insA
6 papers
NM_007348.4
p.D28Splc
c.82+5G>T
1 paper
NM_007348.4
p.D26H
c.76G>C
1 paper
NM_007348.4
p.L23L
c.67C>T
1 paper
NM_007348.4
p.R22R
c.66G>A
2 papers
NM_007348.4
p.F20S
c.59T>C
1 paper
NM_007348.4
p.P17P
c.51G>T
2 papers
NM_007348.4
p.S16N
c.47G>A
3 papers
NM_007348.4
p.S16I
c.47G>T
1 paper
NM_007348.4
p.E12K
c.34G>A
1 paper
NM_007348.4
p.M11I
c.33G>A
1 paper
NM_007348.4
p.M11I
c.33G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."